Incidental Mutation 'R7541:Adamts10'
| ID |
583913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts10
|
| Ensembl Gene |
ENSMUSG00000024299 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
| Synonyms |
ZnMP |
| MMRRC Submission |
045613-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
R7541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33743178-33772756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33750590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 210
(R210H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087623]
[ENSMUST00000172922]
[ENSMUST00000173013]
[ENSMUST00000173030]
[ENSMUST00000173241]
[ENSMUST00000173931]
|
| AlphaFold |
P58459 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087623
AA Change: R210H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000084905
Gene: ENSMUSG00000024299
AA Change: R210H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
40 |
180 |
1.3e-33 |
PFAM |
|
Pfam:Reprolysin_5
|
237 |
432 |
5e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
237 |
448 |
5e-11 |
PFAM |
|
Pfam:Reprolysin
|
239 |
457 |
1.6e-25 |
PFAM |
|
Pfam:Reprolysin_2
|
257 |
447 |
1.2e-13 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
403 |
5.7e-13 |
PFAM |
|
TSP1
|
550 |
602 |
7.21e-11 |
SMART |
|
Pfam:ADAM_spacer1
|
706 |
818 |
1.3e-27 |
PFAM |
|
TSP1
|
828 |
885 |
4.73e-6 |
SMART |
|
TSP1
|
887 |
940 |
4.35e-2 |
SMART |
|
TSP1
|
948 |
1003 |
2.66e-2 |
SMART |
|
TSP1
|
1006 |
1058 |
9.98e-5 |
SMART |
|
Pfam:PLAC
|
1070 |
1102 |
8.4e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172922
AA Change: R210H
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133891
Gene: ENSMUSG00000024299
AA Change: R210H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
39 |
180 |
1.1e-30 |
PFAM |
|
SCOP:d1bkca_
|
238 |
271 |
4e-7 |
SMART |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173013
AA Change: R210H
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134181
Gene: ENSMUSG00000024299
AA Change: R210H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
39 |
180 |
9.6e-31 |
PFAM |
|
SCOP:d1bkca_
|
238 |
271 |
3e-7 |
SMART |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173030
AA Change: R210H
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134549
Gene: ENSMUSG00000024299
AA Change: R210H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
39 |
180 |
9.6e-31 |
PFAM |
|
SCOP:d1bkca_
|
238 |
271 |
3e-7 |
SMART |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173241
AA Change: R210H
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134298
Gene: ENSMUSG00000024299
AA Change: R210H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
39 |
180 |
9.6e-31 |
PFAM |
|
SCOP:d1bkca_
|
238 |
271 |
3e-7 |
SMART |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173931
AA Change: R210H
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133434
Gene: ENSMUSG00000024299
AA Change: R210H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
39 |
180 |
9.6e-31 |
PFAM |
|
SCOP:d1bkca_
|
238 |
271 |
3e-7 |
SMART |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174348
|
| SMART Domains |
Protein: ENSMUSP00000133856
Gene: ENSMUSG00000024299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Reprolysin_5
|
23 |
220 |
2.6e-16 |
PFAM |
|
Pfam:Reprolysin_4
|
23 |
235 |
2.6e-12 |
PFAM |
|
Pfam:Reprolysin
|
25 |
243 |
1e-26 |
PFAM |
|
Pfam:Reprolysin_2
|
43 |
233 |
7.1e-15 |
PFAM |
|
Pfam:Reprolysin_3
|
47 |
189 |
4.7e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate a functional, zinc-dependent metallopeptidase enzyme. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,416,610 (GRCm39) |
|
probably null |
Het |
| Als2 |
T |
C |
1: 59,206,775 (GRCm39) |
|
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,063,652 (GRCm39) |
M652K |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,803,491 (GRCm39) |
I560M |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,782,434 (GRCm39) |
D602G |
possibly damaging |
Het |
| Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
| Cd200l2 |
T |
A |
16: 45,348,855 (GRCm39) |
T106S |
possibly damaging |
Het |
| Cdh4 |
A |
G |
2: 179,086,603 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
T |
A |
1: 118,470,727 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
A |
G |
9: 105,644,523 (GRCm39) |
I1255T |
probably damaging |
Het |
| Comp |
G |
T |
8: 70,834,000 (GRCm39) |
V672L |
probably damaging |
Het |
| Dbnl |
T |
G |
11: 5,745,486 (GRCm39) |
D122E |
probably damaging |
Het |
| Dgkz |
G |
A |
2: 91,773,020 (GRCm39) |
R346C |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,327,516 (GRCm39) |
R54C |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 106,033,346 (GRCm39) |
I121T |
probably damaging |
Het |
| Fam184b |
A |
G |
5: 45,699,574 (GRCm39) |
L614P |
probably damaging |
Het |
| Fbh1 |
T |
C |
2: 11,754,348 (GRCm39) |
R797G |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,843,681 (GRCm39) |
C856* |
probably null |
Het |
| Gata6 |
A |
G |
18: 11,059,108 (GRCm39) |
T392A |
probably damaging |
Het |
| Gm29609 |
A |
G |
5: 31,311,576 (GRCm39) |
F855S |
probably benign |
Het |
| Gm3424 |
T |
C |
14: 17,337,195 (GRCm39) |
N88D |
possibly damaging |
Het |
| Gnas |
T |
A |
2: 174,139,892 (GRCm39) |
S80T |
unknown |
Het |
| Hsd17b14 |
C |
A |
7: 45,215,570 (GRCm39) |
P190Q |
probably damaging |
Het |
| Iqch |
C |
T |
9: 63,352,803 (GRCm39) |
V955I |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,304,122 (GRCm39) |
V164A |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,336,515 (GRCm39) |
L46P |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,984,748 (GRCm39) |
M237V |
probably benign |
Het |
| Lmbr1l |
A |
T |
15: 98,807,267 (GRCm39) |
|
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,517,686 (GRCm39) |
I408V |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,186,791 (GRCm39) |
S365G |
unknown |
Het |
| Marchf2 |
A |
T |
17: 33,922,032 (GRCm39) |
C109* |
probably null |
Het |
| Metrnl |
T |
A |
11: 121,606,796 (GRCm39) |
C284S |
probably damaging |
Het |
| Mmachc |
G |
A |
4: 116,563,082 (GRCm39) |
T91I |
probably benign |
Het |
| Mrps7 |
T |
G |
11: 115,497,696 (GRCm39) |
M187R |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,978,336 (GRCm39) |
E845G |
probably damaging |
Het |
| Nscme3l |
G |
A |
19: 5,553,439 (GRCm39) |
P114L |
probably benign |
Het |
| Ooep |
T |
A |
9: 78,285,347 (GRCm39) |
T90S |
possibly damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,376 (GRCm39) |
D139E |
probably benign |
Het |
| Or2y1g |
T |
A |
11: 49,171,160 (GRCm39) |
F62I |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,624,662 (GRCm39) |
D664V |
probably damaging |
Het |
| Pigz |
T |
C |
16: 31,763,949 (GRCm39) |
S336P |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 24,815,553 (GRCm39) |
D71E |
probably benign |
Het |
| Reep6 |
G |
T |
10: 80,171,033 (GRCm39) |
R303L |
possibly damaging |
Het |
| Rmdn2 |
A |
T |
17: 79,935,297 (GRCm39) |
S137C |
|
Het |
| Rnf220 |
A |
T |
4: 117,347,127 (GRCm39) |
L95H |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
A |
T |
2: 32,708,517 (GRCm39) |
S83T |
probably damaging |
Het |
| Tcstv7b |
A |
T |
13: 120,702,515 (GRCm39) |
M104L |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,958,617 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,621,645 (GRCm39) |
D15598E |
probably damaging |
Het |
| Vav2 |
T |
A |
2: 27,165,014 (GRCm39) |
R645W |
probably damaging |
Het |
| Vmn1r169 |
T |
A |
7: 23,277,412 (GRCm39) |
V268D |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,735,279 (GRCm39) |
C365S |
probably damaging |
Het |
|
| Other mutations in Adamts10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01541:Adamts10
|
APN |
17 |
33,762,205 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01865:Adamts10
|
APN |
17 |
33,772,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02391:Adamts10
|
APN |
17 |
33,747,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02711:Adamts10
|
APN |
17 |
33,757,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0122:Adamts10
|
UTSW |
17 |
33,747,454 (GRCm39) |
unclassified |
probably benign |
|
|
R0207:Adamts10
|
UTSW |
17 |
33,764,364 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0481:Adamts10
|
UTSW |
17 |
33,768,347 (GRCm39) |
nonsense |
probably null |
|
|
R0508:Adamts10
|
UTSW |
17 |
33,762,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Adamts10
|
UTSW |
17 |
33,769,583 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0746:Adamts10
|
UTSW |
17 |
33,768,521 (GRCm39) |
nonsense |
probably null |
|
|
R1027:Adamts10
|
UTSW |
17 |
33,762,737 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1449:Adamts10
|
UTSW |
17 |
33,764,613 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1471:Adamts10
|
UTSW |
17 |
33,772,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Adamts10
|
UTSW |
17 |
33,756,293 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1631:Adamts10
|
UTSW |
17 |
33,756,316 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1863:Adamts10
|
UTSW |
17 |
33,770,406 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1913:Adamts10
|
UTSW |
17 |
33,768,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2091:Adamts10
|
UTSW |
17 |
33,770,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2377:Adamts10
|
UTSW |
17 |
33,747,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3743:Adamts10
|
UTSW |
17 |
33,747,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4042:Adamts10
|
UTSW |
17 |
33,768,514 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4646:Adamts10
|
UTSW |
17 |
33,764,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Adamts10
|
UTSW |
17 |
33,756,304 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4695:Adamts10
|
UTSW |
17 |
33,750,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4721:Adamts10
|
UTSW |
17 |
33,764,511 (GRCm39) |
splice site |
probably null |
|
|
R4798:Adamts10
|
UTSW |
17 |
33,747,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Adamts10
|
UTSW |
17 |
33,747,870 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7454:Adamts10
|
UTSW |
17 |
33,763,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7494:Adamts10
|
UTSW |
17 |
33,768,352 (GRCm39) |
nonsense |
probably null |
|
|
R7704:Adamts10
|
UTSW |
17 |
33,770,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7955:Adamts10
|
UTSW |
17 |
33,764,613 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8154:Adamts10
|
UTSW |
17 |
33,756,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Adamts10
|
UTSW |
17 |
33,768,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8986:Adamts10
|
UTSW |
17 |
33,762,668 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9116:Adamts10
|
UTSW |
17 |
33,756,330 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1176:Adamts10
|
UTSW |
17 |
33,747,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Adamts10
|
UTSW |
17 |
33,747,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Adamts10
|
UTSW |
17 |
33,764,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Adamts10
|
UTSW |
17 |
33,764,403 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGTGAAGTATGTATGGCAAC -3'
(R):5'- TGGCCAACACATACTGCTC -3'
Sequencing Primer
(F):5'- TCATCAATGTACTTGGAAAGTAGAGG -3'
(R):5'- ACACATACTGCTCCACATCTCTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation